人 SLC22A18 (NM_002555) cDNA克隆

Accession: NM_002555
基因名称: SLC22A18
基因别名: HET; ITM; BWR1A; IMPT1; TSSC5; ORCTL2; BWSCR1A; SLC22A1L; p45-BWR1A
基因描述: Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1275 (查看编码区序列)
翻译后氨基酸长度: 424 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same isoform.
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G103949 人 SLC22A18 (NM_002555) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Two alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Oct 2010]